(Q36437705)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

title

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

6

R J Desnick

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

author name string

C M Eng

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

G A Ashley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

T S Burgert

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

A L Enriquez

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

M D'Souza

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

language of work or name

English

0 references

publication date

1 March 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

volume

3

1 reference

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2 November 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

page(s)

174-182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf03401671

2 November 2019

exact match

0 references

cites work

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Unusual mutation clusters provide insight into class I gene conversion mechanisms

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

The CpG dinucleotide and human genetic disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Nucleotide sequence of the human alpha-galactosidase A gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2230047

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

30 September 2017

1 reference

12 December 2020

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

1 reference

12 December 2020

Mechanisms of insertional mutagenesis in human genes causing genetic disease

1 reference

12 December 2020

Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification

1 reference

12 December 2020

A novel complex mutation in the LDL receptor gene probably caused by the simultaneous occurrence of deletion and insertion in the same region

1 reference

12 December 2020

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF03401671

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9100224%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

9100224

1 reference